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14 results on '"El Naofal, Maha"'

2. The genomic landscape of rare disorders in the Middle East

Author

El Naofal, Maha, Ramaswamy, Sathishkumar, Alsarhan, Ali, Nugud, Ahmed, Sarfraz, Fatima, Janbaz, Hiba, Taylor, Alan, Jain, Ruchi, Halabi, Nour, Yaslam, Sawsan, Alfalasi, Roudha, Shenbagam, Shruti, Rabea, Fatma, Bitzan, Martin, Yavuz, Lemis, Wafadari, Deena, Abulhoul, Hamda, Shankar, Shiva, Al Maazmi, Munira, Rizk, Ruba, Alloub, Zeinab, Elbashir, Haitham, Babiker, Mohamed O. E., Chencheri, Nidheesh, AlBanna, Ammar, Sultan, Meshal, El Bitar, Mohamed, Kherani, Safeena, Thalange, Nandu, Alshryda, Sattar, Di Donato, Roberto, Tzivinikos, Christos, Majid, Ibrar, Freeman, Alexandra F., Gonzalez, Corina, Khan, Arif O., Hamdan, Hisham, Abuhammour, Walid, AlAwadhi, Mohamed, AlKhayat, Abdulla, Alsheikh-Ali, Alawi, and Abou Tayoun, Ahmad N.

Published
2023
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3. Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations

Author

Halabi, Nour, Ramaswamy, Sathishkumar, El Naofal, Maha, Taylor, Alan, Yaslam, Sawsan, Jain, Ruchi, Alfalasi, Roudha, Shenbagam, Shruti, Bitzan, Martin, Yavuz, Lemis, Abulhoul, Hamda, Shankar, Shiva, Janjua, Dalwinder, Jadhav, Devendrasing, Al Maazmi, Munira Mahmoud, Abuhammour, Walid, Alsheikh-Ali, Alawi, Al Awadhi, Mohamed, Al Khayat, Abdulla, and Abou Tayoun, Ahmad N.

Published
2022
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4. IFIH1 loss of function predisposes to inflammatory and SARS‐CoV‐2‐related infectious diseases.

Author

Najm, Rania, Yavuz, Lemis, Jain, Ruchi, El Naofal, Maha, Ramaswamy, Sathishkumar, Abuhammour, Walid, Loney, Tom, Nowotny, Norbert, Alsheikh‐Ali, Alawi, Abou Tayoun, Ahmad, and Kandasamy, Richard K.

Subjects
MULTISYSTEM inflammatory syndrome in children, COMMUNICABLE diseases, INFLAMMATORY bowel diseases, AGAMMAGLOBULINEMIA
Abstract

The IFIH1 gene, encoding melanoma differentiation‐associated protein 5 (MDA5), is an indispensable innate immune regulator involved in the early detection of viral infections. Previous studies described MDA5 dysregulation in weakened immunological responses, and increased susceptibility to microbial infections and autoimmune disorders. Monoallelic gain‐of‐function of the IFIH1 gene has been associated with multisystem disorders, namely Aicardi–Goutieres and Singleton–Merten syndromes, while biallelic loss causes immunodeficiency. In this study, nine patients suffering from recurrent infections, inflammatory diseases, severe COVID‐19 or multisystem inflammatory syndrome in children (MIS‐C) were identified with putative loss‐of‐function IFIH1 variants by whole‐exome sequencing. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL‐6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID‐19 or MIS‐C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS‐C. There was a significant association between IFIH1 monoallelic loss of function and susceptibility to infections in males. Expression analysis showed that PBMCs of one patient with a c.2016delA variant had a significant decrease in ISG15, IFNA and IFNG transcript levels, compared to normal PBMCs, upon stimulation with Poly(I:C), suggesting that MDA5 receptor truncation disrupts the immune response. Our findings accentuate the implication of rare monogenic IFIH1 loss‐of‐function variants in altering the immune response, and severely predisposing patients to inflammatory and infectious diseases, including SARS‐CoV‐2‐related disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients

Author

Badla, Beshr Abdulaziz, primary, Hanifa, Mohamed Samer, additional, Jain, Ruchi, additional, El Naofal, Maha, additional, Halabi, Nour, additional, Yaslam, Sawsan, additional, Ramaswamy, Sathishkumar, additional, Taylor, Alan, additional, Alfalasi, Roudha, additional, Shenbagam, Shruti, additional, Khansaheb, Hamda, additional, Al Suwaidi, Hanan, additional, Nowotny, Norbert, additional, Popatia, Rizwana, additional, Khayat, Abdulla Al, additional, Alsheikh-Ali, Alawi, additional, Loney, Tom, additional, AlDabal, Laila Mohamed, additional, and Tayoun, Ahmad Abou, additional

Published
2023
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10. Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children

Author

Abuhammour, Walid, primary, Yavuz, Lemis, additional, Jain, Ruchi, additional, Abu Hammour, Khawla, additional, Al-Hammouri, Ghalia F., additional, El Naofal, Maha, additional, Halabi, Nour, additional, Yaslam, Sawsan, additional, Ramaswamy, Sathishkumar, additional, Taylor, Alan, additional, Wafadari, Deena, additional, Alsarhan, Ali, additional, Khansaheb, Hamda, additional, Deesi, Zulfa Omar, additional, Varghese, Rupa Murthy, additional, Uddin, Mohammed, additional, Al Suwaidi, Hanan, additional, Al-Hammadi, Suleiman, additional, Alkhaja, Abdulmajeed, additional, AlDabal, Laila Mohamed, additional, Loney, Tom, additional, Nowotny, Norbert, additional, Al Khayat, Abdulla, additional, Alsheikh-Ali, Alawi, additional, and Abou Tayoun, Ahmad, additional

Published
2022
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12. Genomic and phenotypic characterization of Multisystem Inflammatory Syndrome in Children (MIS-C): a prospective multicenter study from the Middle East

Author

Abuhammour, Walid, primary, Yavus, Lemis, additional, Jain, Ruchi, additional, Abu Hammour, Khawla, additional, Al-Hammouri, Ghalia F, additional, EL Naofal, Maha, additional, Halabi, Nour, additional, Yaslam, Sawsan, additional, Ramaswamy, Sathishkumar, additional, Taylor, Alan, additional, Wafadari, Deena, additional, Alsarhan, Ali A, additional, Khansaheb, Hamda, additional, Deesi, Zulfa, additional, Varghese, Rupa, additional, Uddin, Mohammed, additional, Alsuwaidi, Hanan, additional, Alkhaja, Abdulmajeed, additional, AlDabal, Laila, additional, Loney, Tom, additional, Nowotny, Norbert, additional, Al Khayat, Abdulla, additional, Alsheikh-Ali, Alawi, additional, and Abou Tayoun, Ahmad, additional

Published
2021
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